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    SLC27A2 solute carrier family 27 member 2 [ Homo sapiens (human) ]

    Gene ID: 11001, updated on 3-Nov-2024

    Summary

    Official Symbol
    SLC27A2provided by HGNC
    Official Full Name
    solute carrier family 27 member 2provided by HGNC
    Primary source
    HGNC:HGNC:10996
    See related
    Ensembl:ENSG00000140284 MIM:603247; AllianceGenome:HGNC:10996
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VLCS; FATP2; VLACS; ACSVL1; FACVL1; hFACVL1; HsT17226
    Summary
    The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
    Expression
    Biased expression in liver (RPKM 63.2), kidney (RPKM 62.8) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC27A2 in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (50182196..50236385)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (47990417..48044633)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50474393..50528582)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724587 Neighboring gene ATPase phospholipid transporting 8B4 (putative) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50201373-50201873 Neighboring gene RNA, 5S ribosomal pseudogene 394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9389 Neighboring gene Sharpr-MPRA regulatory region 771 Neighboring gene Sharpr-MPRA regulatory region 7155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9390 Neighboring gene NANOG hESC enhancer GRCh37_chr15:50408634-50409147 Neighboring gene ATP8B4 intron CAGE-defined high expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:50502954-50503533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50544247-50544748 Neighboring gene RNA, 7SL, cytoplasmic 494, pseudogene Neighboring gene histidine decarboxylase Neighboring gene GA binding protein transcription factor subunit beta 1 Neighboring gene RNA, U6 small nuclear 94, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    long-chain fatty acid transport protein 2
    Names
    FATP-2
    THCA-CoA ligase
    arachidonate--CoA ligase
    fatty acid transport protein 2
    fatty-acid-coenzyme A ligase, very long-chain 1
    long-chain-fatty-acid--CoA ligase
    phytanate--CoA ligase
    solute carrier family 27 (fatty acid transporter), member 2
    very long-chain acyl-CoA synthetase
    very long-chain fatty-acid-coenzyme A ligase 1
    very long-chain-fatty-acid-CoA ligase
    NP_001153101.1
    NP_003636.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001159629.2NP_001153101.1  long-chain fatty acid transport protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001153101.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is lacking an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AK290262, BC057770, BM980042
      Consensus CDS
      CCDS53943.1
      UniProtKB/TrEMBL
      Q53GS2
      Related
      ENSP00000370289.4, ENST00000380902.8
      Conserved Domains (2) summary
      cl17068
      Location:76557
      AFD_class_I; Adenylate forming domain, Class I superfamily
      cl27678
      Location:4798
      AMP-binding; AMP-binding enzyme
    2. NM_003645.4NP_003636.2  long-chain fatty acid transport protein 2 isoform 1

      See identical proteins and their annotated locations for NP_003636.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK223145, AK290262
      Consensus CDS
      CCDS10133.1
      UniProtKB/Swiss-Prot
      A8K2J7, O14975, Q53FY6, Q6PF09
      UniProtKB/TrEMBL
      Q53GS2
      Related
      ENSP00000267842.5, ENST00000267842.10
      Conserved Domains (1) summary
      cd05938
      Location:74610
      hsFATP2a_ACSVL_like; Fatty acid transport proteins (FATP) including hsFATP2, hsFATP5, and hsFATP6, and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      50182196..50236385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      47990417..48044633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)